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Keyword - Diamond-Blackfan anemia (KW-1024)

Definition

Protein which, if defective, causes Diamond-Blackfan anemia, a rare congenital non-regenerative hypoplastic anemia that usually presents early in infancy. The disease is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.

Synonyms

  • Aase-Smith syndrome II
  • Aase syndrome
  • BDS
  • Blackfan-Diamond disease
  • Blackfan-Diamond syndrome
  • Chronic congenital aregenerative anemia
  • Congenital erythroid hypoplastic anemia
  • Congenital hypoplastic anemia of Blackfan and Diamond
  • DBA
  • Erythrogenesis imperfecta
  • Pure red cell aplasia

Category

Disease

Graphical

Diamond-Blackfan anemiaDisease